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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP4B1

Variant:p.K316E

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AP4B1

NM_001253852.3:p.K316E

hg38:chr1:113900072 T>C

Associated Papers

Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.

Tozkir H et al.

Genes, 2025

40565516 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."